Could genomic screening at birth unlock early treatment for rare diseases?
NCT ID NCT05990179
First seen Sep 30, 2025 · Last updated May 09, 2026 · Updated 32 times
Summary
This study explores whether genomic sequencing can help screen newborns for rare genetic conditions beyond the standard newborn screening. Researchers will invite families of 100,000 newborns to participate, offering optional screening for additional treatable or emerging conditions. The goal is to see if this approach is practical and can lead to earlier diagnosis and care.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Columbia University Irving Medical Center/NYP
RECRUITINGNew York, New York, 10032, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Conditions
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